A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673975



Internal ID9940080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:135946933..135947177hg38UCSC Ensembl
chr8:136959176..136959420hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5872726, essv6403411, essv5993867, essv6395510, essv5645055, essv6400228, essv5746099, essv6367077, essv6327090, essv5642366, essv5699241, essv5804754, essv6419926, essv5768598, essv5991413, essv5894374, essv5733560, essv6320387, essv6059088, essv6321486, essv6213144, essv6520821, essv6292127
SamplesHG01462, NA18508, NA19914, NA19359, NA19355, NA19446, NA19379, NA19448, NA19197, NA19313, NA19372, NA19371, NA19385, NA18934, NA19403, NA19236, NA18853, NA19452, NA18517, NA19749, NA19439, NA19428, NA19223
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673975
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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